Incidental Mutation 'IGL01362:Dusp1'
| ID |
75802 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dusp1
|
| Ensembl Gene |
ENSMUSG00000024190 |
| Gene Name |
dual specificity phosphatase 1 |
| Synonyms |
Ptpn16, MKP1, erp, mkp-1, 3CH134 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01362
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26724565-26727446 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26725618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 247
(I247T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025025]
|
| AlphaFold |
P28563 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025025
AA Change: I247T
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000025025
Gene: ENSMUSG00000024190
AA Change: I247T
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
10 |
134 |
6.41e-16 |
SMART |
|
DSPc
|
173 |
311 |
2.22e-69 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126178
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146077
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The expression of DUSP1 gene is induced in human skin fibroblasts by oxidative/heat stress and growth factors. It specifies a protein with structural features similar to members of the non-receptor-type protein-tyrosine phosphatase family, and which has significant amino-acid sequence similarity to a Tyr/Ser-protein phosphatase encoded by the late gene H1 of vaccinia virus. The bacterially expressed and purified DUSP1 protein has intrinsic phosphatase activity, and specifically inactivates mitogen-activated protein (MAP) kinase in vitro by the concomitant dephosphorylation of both its phosphothreonine and phosphotyrosine residues. Furthermore, it suppresses the activation of MAP kinase by oncogenic ras in extracts of Xenopus oocytes. Thus, DUSP1 may play an important role in the human cellular response to environmental stress as well as in the negative regulation of cellular proliferation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice were viable, fertile, and showed no apparent morphological defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
A |
8: 87,261,322 (GRCm39) |
D733V |
probably benign |
Het |
| Baz2a |
G |
A |
10: 127,957,833 (GRCm39) |
G1062D |
probably damaging |
Het |
| Bmp8a |
C |
A |
4: 123,207,094 (GRCm39) |
R389L |
probably damaging |
Het |
| Ccdc148 |
A |
G |
2: 58,719,811 (GRCm39) |
V488A |
probably benign |
Het |
| Cdh24 |
T |
C |
14: 54,875,889 (GRCm39) |
I227V |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,069,161 (GRCm39) |
F2509L |
probably damaging |
Het |
| Erich6 |
G |
A |
3: 58,529,781 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
C |
15: 99,178,199 (GRCm39) |
T376A |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,228,072 (GRCm39) |
E570G |
probably damaging |
Het |
| Gm5117 |
G |
T |
8: 32,227,947 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr37l1 |
A |
G |
1: 135,089,216 (GRCm39) |
V283A |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,123,767 (GRCm39) |
|
probably benign |
Het |
| Ifit1bl2 |
G |
A |
19: 34,596,884 (GRCm39) |
T244I |
probably benign |
Het |
| Mcoln1 |
T |
C |
8: 3,557,558 (GRCm39) |
V188A |
possibly damaging |
Het |
| Mon1a |
T |
C |
9: 107,779,883 (GRCm39) |
L484P |
probably damaging |
Het |
| Mrgprg |
T |
A |
7: 143,318,806 (GRCm39) |
D102V |
probably damaging |
Het |
| Mto1 |
T |
A |
9: 78,360,056 (GRCm39) |
S181R |
probably benign |
Het |
| Myh11 |
C |
T |
16: 14,095,586 (GRCm39) |
V59I |
probably benign |
Het |
| Myo7a |
G |
A |
7: 97,746,909 (GRCm39) |
T163I |
probably damaging |
Het |
| Nr4a3 |
A |
C |
4: 48,051,586 (GRCm39) |
Q142H |
possibly damaging |
Het |
| Or14c41 |
A |
T |
7: 86,234,647 (GRCm39) |
T55S |
possibly damaging |
Het |
| Or2a14 |
A |
G |
6: 43,130,569 (GRCm39) |
E110G |
probably damaging |
Het |
| Or2y15 |
A |
G |
11: 49,351,270 (GRCm39) |
I255V |
probably benign |
Het |
| Or8b8 |
A |
G |
9: 37,809,359 (GRCm39) |
I220V |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,748,595 (GRCm39) |
S1859P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,396,378 (GRCm39) |
T1967A |
probably benign |
Het |
| Plppr3 |
C |
T |
10: 79,701,795 (GRCm39) |
R349Q |
probably damaging |
Het |
| Ppp2r5d |
A |
G |
17: 46,996,443 (GRCm39) |
|
probably null |
Het |
| Prl2c2 |
C |
T |
13: 13,176,828 (GRCm39) |
C33Y |
probably damaging |
Het |
| Prl3d2 |
T |
A |
13: 27,306,438 (GRCm39) |
L55* |
probably null |
Het |
| Ralgapb |
C |
T |
2: 158,277,385 (GRCm39) |
R250C |
probably damaging |
Het |
| Scamp3 |
C |
T |
3: 89,086,441 (GRCm39) |
P63S |
probably benign |
Het |
| Slc22a6 |
A |
G |
19: 8,598,572 (GRCm39) |
I210V |
possibly damaging |
Het |
| Stard13 |
T |
A |
5: 151,113,417 (GRCm39) |
H48L |
probably benign |
Het |
| Tm6sf2 |
G |
A |
8: 70,530,565 (GRCm39) |
R215H |
probably damaging |
Het |
| Twist2 |
T |
C |
1: 91,729,650 (GRCm39) |
L101P |
probably damaging |
Het |
| Uvrag |
A |
G |
7: 98,537,720 (GRCm39) |
S492P |
probably benign |
Het |
| Zan |
T |
C |
5: 137,450,712 (GRCm39) |
T1622A |
unknown |
Het |
| Zswim2 |
T |
A |
2: 83,745,690 (GRCm39) |
T583S |
probably benign |
Het |
|
| Other mutations in Dusp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01346:Dusp1
|
APN |
17 |
26,725,295 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01363:Dusp1
|
APN |
17 |
26,725,264 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02186:Dusp1
|
APN |
17 |
26,726,032 (GRCm39) |
nonsense |
probably null |
|
|
R0374:Dusp1
|
UTSW |
17 |
26,727,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0385:Dusp1
|
UTSW |
17 |
26,726,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1344:Dusp1
|
UTSW |
17 |
26,727,293 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1418:Dusp1
|
UTSW |
17 |
26,727,293 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1773:Dusp1
|
UTSW |
17 |
26,726,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2269:Dusp1
|
UTSW |
17 |
26,726,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2968:Dusp1
|
UTSW |
17 |
26,726,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5253:Dusp1
|
UTSW |
17 |
26,727,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6952:Dusp1
|
UTSW |
17 |
26,726,577 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7909:Dusp1
|
UTSW |
17 |
26,726,586 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9302:Dusp1
|
UTSW |
17 |
26,726,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dusp1
|
UTSW |
17 |
26,726,169 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation